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Description for Protein DYSF

dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
4 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • C2: Protein kinase C conserved region 2 (CalB)
  • DYSFC: Dysferlin domain, C-terminal region.
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Dystrophy associated fer-1-like protein; Fer-1 like protein 1; FER1L1
    Approved Symbol:
    DYSF
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 24
    Human (de-) phosphorylation sites: 24; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Miyoshi myopathy(Pd);
  • Muscular dystrophy, limb-girdle, type 2B(Pd);
  • Myopathy, distal, with anterior tibial onset(Pd)
    		• Predicted Transmembrane Domains:
    04307_14(1)
    04307_13(1)
    04307_12(1)
    04307_11(1)
    04307_10(1)
  • Isoform 9 : 1
  • Isoform 8 : 1
  • Isoform 7 : 1
  • Isoform 6 : 1
  • Isoform 5 : 1
  • Isoform 4 : 1
  • Isoform 3 : 1
  • Isoform 2 : 1
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 04307 Entrez Gene ID: 8291 OMIM ID: 603009 Swissprot Accession: O75923;